中国人群中MTHFR基因c.1625A>C变异与先天性心脏病风险的关联。
The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese.
作者信息
Wang Yuting, Sun Lei, Du Weina, Song Shuang, Wang Shuo, Jiang Weiju, Huang Tianchu, Li Hui
机构信息
1 Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University , Shenyang, People's Republic of China .
出版信息
Genet Test Mol Biomarkers. 2015 Jan;19(1):44-7. doi: 10.1089/gtmb.2014.0253.
The purpose of this study is to investigate the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the risk of congenital heart diseases (CHD). The genotypes of the MTHFR genetic variant were determined by the polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods. Our data suggested that the allelic and genotypic frequencies of CHD patients were significantly different from non-CHD controls. The MTHFR c.1625A>C genetic variant was significantly associated with the increased risk of CHD (CC vs. AA: odds ratio [OR]=2.29, 95% confidence interval [CI] 1.15-4.53, p=0.016; C vs. A: OR=1.47, 95% CI 1.11-1.96, p=0.008). Results from this study indicate that the MTHFR c.1625A>C genetic variant influences the risk of CHD in the studied population.
本研究的目的是调查亚甲基四氢叶酸还原酶（MTHFR）基因多态性与先天性心脏病（CHD）风险之间的关联。通过聚合酶链反应-限制性片段长度多态性和DNA测序方法确定MTHFR基因变异的基因型。我们的数据表明，CHD患者的等位基因和基因型频率与非CHD对照有显著差异。MTHFR c.1625A>C基因变异与CHD风险增加显著相关（CC与AA：比值比[OR]=2.29，95%置信区间[CI] 1.15-4.53，p=0.016；C与A：OR=1.47，95%CI 1.11-1.96，p=0.008）。本研究结果表明，MTHFR c.1625A>C基因变异影响所研究人群中CHD的风险。
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